Melioidosis: misdiagnosed in Nepal.

BACKGROUND: Melioidosis is a life-threatening infectious disease that is caused by gram negative bacteria Burkholderia pseudomallei. This bacteria occurs as an environmental saprophyte typically in endemic regions of south-east Asia and northern Australia. Therefore, patients with melioidosis are at high risk of being misdiagnosed and/or under-diagnosed in South Asia. CASE PRESENTATION: Here, we report two cases of melioidosis from Nepal. Both of them were diabetic male who presented themselves with fever, multiple abscesses and developed sepsis. They were treated with multiple antimicrobial agents including antitubercular drugs before being correctly diagnosed as melioidosis. Consistent with this, both patients were farmer by occupation and also reported travelling to Malaysia in the past. The diagnosis was made consequent to the isolation of B. pseudomallei from pus samples. Accordingly, they were managed with intravenous meropenem followed by oral doxycycline and cotrimoxazole. CONCLUSION: The case reports raise serious concern over the existing unawareness of melioidosis in Nepal. Both of the cases were left undiagnosed for a long time. Therefore, clinicians need to keep a high index of suspicion while encountering similar cases. Especially diabetic-farmers who present with fever and sepsis and do not respond to antibiotics easily may turn out to be yet another case of melioidosis. Ascertaining the travel history and occupational history is of utmost significance. In addition, the microbiologist should be trained to correctly identify B. pseudomallei as it is often confused for other Burkholderia species. The organism responds only to specific antibiotics; therefore, correct and timely diagnosis becomes crucial for better outcomes.

Incidence and clinical profile of tuberculosis after allogeneic stem cell transplantation.

BACKGROUND: Patients post allogeneic stem cell transplantation (alloSCT) are expected to be at high risk of tuberculosis (TB) owing to underlying immunosuppression. We conducted a retrospective study in patients post alloSCT for clinical features and factors associated with TB. METHODS: Records of all patients transplanted from January 1, 2012 until December 31, 2015 were reviewed. Diagnosis of TB was considered if Mycobacterium tuberculosis was cultured from clinical samples or acid-fast bacilli (AFB) were demonstrated on histopathology/smears. A presumptive TB diagnosis was considered in the presence of signs and symptoms suggestive of TB with epithelioid cell granulomas, without AFB. RESULTS: In 175 eligible patients, TB was detected in 5 patients (pulmonary = 4, lymph node = 1), with incidence of 2.84% at median of 258 (157-639) days after transplantation. Cumulative incidence rate of TB among the patients undergoing alloSCT was calculated to be 1.9/100 person-years. Median duration of symptoms was 20 days till diagnosis was confirmed. All patients were started on four-drug anti-tubercular therapy (ATT) with clinical/radiological response in all. Two patients developed hepatotoxicity (transaminitis, n = 1; hyperbilirubinemia, n = 1) following ATT. Presence of chronic graft-versus-host disease (GVHD) (P = .008) and steroid-refractory GVHD (P = .001) was found to be significantly associated with TB. CONCLUSION: TB should be suspected in patients with unexplained fever post alloSCT. Active GVHD and ongoing immunosuppression/steroids are possible risk factors. Early diagnosis and treatment can salvage most patients. Hepatotoxicity following ATT is a potential concern.

Eculizumab for paroxysmal nocturnal haemoglobinuria: catastrophic health expenditure in Nepalese patients.

Paroxysmal nocturnal hemoglobinuria (PNH) results from a mutation in the phosphatidylinositol glycan class-A gene which causes uncontrolled complement activation with resultant intravascular hemolysis and its sequelae. Eculizumab is a terminal complement inhibitor that blocks this complement activation and has revolutionized the treatment of PNH but comes with an enormous price which can have catastrophic health expenditure in low-middle income countries (LMIC) like Nepal. Here, we discuss the potential way forwards in the treatment of PNH in Nepal and other LMICs.

Role of Mentzer Index for Differential Diagnosis of Iron Deficiency Anaemia and Beta Thalassemia Trait.

BACKGROUND: The most common differential diagnoses of microcytic hypochromic anaemia are iron deficiency anaemia and beta thalassemia. Globally, thalassemia affects approximately 4.4 out of every 10,000 live births whereas iron deficiency anaemia comprises half of all anaemia worldwide as per world health organization. The definitive diagnosis of beta thalassemia trait and iron deficiency anaemia requires haemoglobin analysis and iron studies respectively, which are not possible to perform in all suspected cases especially in resource limited settings. The study aims to evaluate the reliability of mentzer index in differentiating beta thalassemia trait from iron deficiency anaemia. METHODS: This was a cross sectional, observational study done on 59 patients each of beta thalassemia trait and iron deficiency anaemia from August 2019 to July 2020. Patients who were found to be having iron deficiency anaemia diagnosed by iron studies and beta thalassemia trait diagnosed by Hb electrophoresis were enrolled in the study using simple random sampling technique. RESULTS: Mentzer index correctly identified 95.76% of overall patients. Area under receiver operating characteristic curve was 0.993 (95% CI, 0.985-1.002, p<0.001). For beta thalassemia trait, mentzer index showed a sensitivity of 93.2%, specificity of 98.3%, positive predictive value of 98.2%, negative predictive value of 93.5%; while for iron deficiency anaemia, sensitivity of 98.3%, specificity of 93.2%, positive predictive value of 93.5% and negative predictive value of 98.2%. Youden's index was 91.5. CONCLUSIONS: The findings of the present study make mentzer index a reliable screening method, especially in a resource poor setting, like Nepal. Further confirmation by gold standard tests is recommended.

Multiple myeloma with plasmacytoma of the clivus bone presenting with multiple cranial nerve III, IV, and VI palsy: A diagnostic dilemma.

Central nervous system (CNS) manifestation with cranial nerve palsy in multiple myeloma (MM) is a rare manifestation. Plasmacytoma originates from the bones of the skull base in 3% patients with MM but rarely develops from the soft tissues of the nasal cavity and paranasal sinuses. Here, we present a case of 68-year-old male patient with multiple myeloma, clivus bone plasmacytoma, and cavernous sinus syndrome.

Bilateral central retinal vein occlusion as an initial presentation of Waldenström macroglobulinemia: a case report.

BACKGROUND: Waldenström macroglobulinemia is a rare hematological malignancy and is the most common diagnosis in patients with hyperviscosity syndrome. Bilateral central retinal vein occlusion as an initial presentation of hyperviscosity syndrome in Waldenström macroglobulinemia is rare. CASE PRESENTATION: A 42-year-old Nepalese male presented with sudden-onset bilateral painless blurring of vision. Fundus examination revealed bilateral, diffusely dilated, tortuous retinal veins and intraretinal deep blot hemorrhages in all four quadrants of the retina in both eyes; features of bilateral central retinal vein occlusion. Serum electrophoresis showed hypoalbuminemia with an immunoglobulin M kappa monoclonal spike. Bone marrow picture and immunohistochemistry analysis were suggestive of lymphoplasmacytic lymphoma. The patient received systemic therapy for Waldenström macroglobulinemia, along with intravitreal bevacizumab. CONCLUSION: Adequate hydration, plasmapheresis, and a combination of bortezomib, dexamethasone, and rituximab regimen as a systemic therapy may represent an ideal choice for patients with hyperviscosity in Waldenström macroglobulinemia.

Undiagnosed polycythemia, an uncommon cause of Wallenberg syndrome: A case report.

A 26-year-old man presented with difficulty swallowing, dizziness, hiccups, and Horner's syndrome. Clinical and neuroimaging collaboration confirmed lateral medullary syndrome. Polycythemia was identified as the only attributable risk factor. However, the cause of polycythemia could not be assessed further. Polycythemia was managed with phlebotomy.

Primary spinal Non-Hodgkin Lymphoma presenting as impending cauda equina syndrome: A case report.

Introduction: Malignant lymphoma (ML) can involve the central nervous system either primarily or by secondary spread, which tends to occur late in the disease as part of widespread dissemination. Lymphoma presenting as primary tumors of the spinal cord is extremely uncommon. Primary spinal lymphoma if detected early can have a good prognosis with no relapse after effective treatment. Case presentation: A 32 years old male patient presented with the symptoms of impending cauda equina syndrome which was managed with surgery and chemotherapy. The patient was successfully treated without the relapse of his condition at his 6 months follow-up scan.Discussion: Primary spinal non-Hodgkin lymphoma is a rare entity among extranodal non-Hodgkin lymphoma. MRI is usually non-confirmatory and needs immunohistochemistry for the correct diagnosis. R-CHOP regimen is the standard chemotherapy regimen. Surgical decompression is required in cases of impending neurological injury along with radiotherapy. Conclusion: Primary spinal epidural diffuse large B-cell lymphoma should be considered as a differential diagnosis in patients presenting with back pain and symptoms of impending cauda equina syndrome. It is important to early detect and treat the disease to prevent permanent neurological injury and metastasis.

Essential Thrombocythemia among Patients with Myeloproliferative Neoplasms in Haematology Unit of a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: Essential thrombocythemia, a myeloproliferative condition with an increased number of circulating platelets, is a rare hematological malignancy. The aim of the study is to find out the prevalence of essential thrombocythemia among patients with myeloproliferative neoplasms presenting in haematology unit of a tertiary care centre. Methods: This was a descriptive cross-sectional study at a tertiary care centre from September, 2020 to September, 2021 (Reference number: 48 (6-11) E2077/076). All the patients with a diagnosis of essential thrombocythemia and willing to give consent were included in the study while the patients with incomplete investigations were excluded. A sample size of 72 patients was taken and convenience sampling was done. Data were entered in Microsoft Excel 2010 and analysis was done by the Statistical Package for the Social Sciences Version 22.0. Point estimate at 95% Confidence Interval was calculated along with frequency and proportion for binary data along with mean and standard deviation for continuous data. Results: Among 72 patients with myeloproliferative neoplasms, the prevalence of essential thrombocythemia was found to be 17 (23.61%) (13.80-33.42 at a 95% Confidence Interval). The mean age of patients was 55.41±11.20 years with a male to female ratio of 9:8. The mean hemoglobin level and platelet count in patients were found to be 11.20±2.1 g/dl and 677000±262067.70 cells/mm3. Twelve (70.58%) of total patients were under low risk of essential thrombocythemia while 3 (17.64%) of them were at high risk. Conclusions: The prevalence of essential thrombocythemia was similar to other studies done in similar settings. Keywords: essential thrombocythemia; hematology; mutation.

A Rare and Misdiagnosed Entity Paroxysmal Nocturnal Hemoglobinuria: A Case Report.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired stem cell disorder manifesting as non-immunological hemolytic anemia, hemoglobinuria, unusual thrombosis, and renal impairment due to deficiency of glycosylphosphatidylinositol (GPI) linked proteins in red blood cells. Patients present with features of chronic non-immune intravascular hemolysis, unexplained anemia, and thrombosis at unusual sites. It is often misdiagnosed and treated as anemia due to a low degree of suspicion. In resource-limited settings, the low degree of suspicion and paucity of investigations are the major diagnostic challenges. The even bigger challenge remains in the affordability of definitive treatment after a diagnosis has been made. Herein, we present a case of PNH in a 26-year man from rural Nepal who went undetected during the initial presentation of hemolytic anemia and later presented to us with hemolytic anemia and gastrointestinal symptoms. We made the provisional diagnosis based on the clinical presentations. However, we faced challenges in reaching the final diagnosis and providing the definitive treatment due to financial constraints and limited resources. Any patient presenting with features of chronic non-immune intravascular hemolysis, unexplained anemia, and unusual thrombosis should prompt the consideration of PNH.

Tuberculosis with Evans syndrome: A case report.

Evans syndrome and tuberculosis could be predisposing factors for one another, or there may be a common pathophysiological denominator for the co-occurrence. Further research is needed for a better understanding of pathophysiology and treatment.

Popliteal artery thrombosis as a rare complication of paroxysmal nocturnal hemoglobinuria (PNH): A case report.

INTRODUCTION AND IMPORTANCE: Popliteal artery thrombosis a rare but life-threatening complication of Paroxysmal Nocturnal Hemoglobinuria caused due to hemolysis. Complications of further thrombotic event are common after initial management. CASE PRESENTATION: A 38 years old male, known case of PNH for 2 years, presented with the history of loss of pain sensation, coldness and loss of movement in left lower leg for 5 days and history of multiple blood transfusion. The patient underwent knee amputation because of possible complication of PNH. CLINICAL DISCUSSION: Intermittent claudication along with paresthesia, lower extremity weakness, stiffness, and cool extremities are seen in patients of Peripheral Artery Disease. Ultrasound color duplex is a sensitive and specific examination for peripheral flow while gold standard techniques like MRI and CT angiogram to detect and diagnose arterial lesions. CONCLUSION: The risk of thrombo-embolism in a patient of PNH should be considered by a treating doctor while early imaging and management should be done to reduce the complications and risk of amputation.

Hemochromatosis in a ß-thalassemia minor patient with H63D homozygous mutation: A case report.

ß-thalassemia heterozygosity can cause significant iron overload when accompanied by HFE gene mutations and inappropriate iron supplementation.

Sinus histiocytosis with massive lymphadenopathy (rosai-dorfman disease): a case report and literature review.

Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. Objective To report a case of a 12-year-old patient with multiple sites of cervical lymphadenitis, which was diagnosed as RDD histopathologically as well as immunohistologically. Resumed Report A 12-year-old girl presented with multiple painless sites of cervical lymphadenitis without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were engulfing mature lymphocytes. The sinus histiocytes were strongly positive for S-100 protein. Conclusion RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies.

Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease): A Case Report and Literature Review

Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. Objective To report a case of a 12-year-old patient with multiple sites of cervical lymphadenitis, which was diagnosed as RDD histopathologically as well as immunohistologically. Resumed Report A 12-year-old girl presented with multiple painless sites of cervical lymphadenitis without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were engulfing mature lymphocytes. The sinus histiocytes were strongly positive for S-100 protein. Conclusion RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies...